MedGen

Immunodeficiency-107 with susceptibility to invasive Staphylococcus aureus infection (IMD107) is an autosomal dominant immunologic disorder characterized most often by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs. There is incomplete penetrance (about 30%) and variable expressivity. In some patients with heterozygous OTULIN mutations, an infectious agent is not identified, suggesting that low-grade infectious or even noninfectious triggers may play a role in development of the disease. The levels and function of immune cells appear normal; the molecular defect resides in fibroblasts and possibly other nonhematopoietic barrier cells that show increased susceptibility to the detrimental effects of the S. aureus alpha-toxin (Spaan et al., 2022). [from OMIM]

Autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome (AIPDSA) is characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing. Laboratory studies show leukocytosis, neutrophilia, and elevated inflammatory markers, such as C-reactive protein (CRP; 123260). There are no signs of immunodeficiency, and infectious organisms are not detected, although secondary skin or respiratory infections may occur. Treatment with TNF (191160) blockers is usually effective (Davidson et al., 2024; Takeda et al., 2024). [from OMIM]

Autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome (AIPDSB) is an autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP; 123260), leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016). [from OMIM]